The Alabama Department of Public Health (ADPH) announced last week that it has added new screening tests to the Alabama newborn screening panel.
“The Alabama Department of Public Health (ADPH) is excited to announce the approval of four new conditions to the Alabama newborn screening panel. Early identification and treatment of infants affected with certain genetic or metabolic conditions can prevent premature death and reduce morbidity and intellectual and other disabilities, and Alabama law requires screening of every newborn,” ADPH said in a statement.
The screening added include:
Spinal muscular atrophy (SMA)
X-linked adrenoleukodystrophy (X-ALD)
Pompe disease
Mucopolysaccharidosis type I (MPS-I)
These four additional screenings take the total up to 35 that are being screened for by the ADPH Bureau of Clinical Laboratories (BCL).
The State Committee of Public Health approved the rule revision adding these conditions on December 15, 2021. These additions were made in accordance with the national Recommended Uniform Screening Panel (RUSP).
ADPH said that finding and treating these disorders in newborns can prevent serious complications if found early. With the additions, the ADPH Bureau of Clinical Laboratories (BCL) will now screen for 35 conditions.
The BCL began testing for early indicators of SMA Monday. SMA is a rare genetic disorder that results in changes to the genes affecting nerve cells. The lack of nerve cell protein can lead to weakness and death in children without treatment.
The BCL anticipates that the testing for X-ALD, Pompe disease, and MPS-I will begin before the end of this year.
Pompe disease and MPS-I are lysosomal storage disorders that are caused by changes in a single gene. The conditions may worsen and cause death if not treated early.
X-ALD is a rare disorder caused by a change in a single gene and can cause death during childhood without treatment.
Newborn screening can alert providers to the potential for a condition that is typically not apparent at birth. Additional evaluation and testing are required to confirm a diagnosis and identify the right treatment.
The ADPH is partnering with the University of Alabama at Birmingham to help diagnose and provide information to healthcare providers and families.
Newborn screening can alert providers to the potential for a condition that is typically not apparent at birth.
The Alabama Newborn Screening Program identifies 150 to 200 babies each year with a metabolic, endocrine, hematological, or other congenital disorder. These babies usually look and act healthy at birth.
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